14) Non-malignant granulocyte & monocyte disorders Flashcards
monolobed (homozygous) or bilobed (heterozygous) neutrophils
Pelger-Huet
significant of Pelger Huet
differentiating from a left shift
How can monolobed Pelger Huet be distinguished from myelos?
- clumped chromatin
- mature looking cytoplasm
- most/all neutrophils have anomaly
2 causes of pseudo-Pelger Huet
- myeloid malignancies
- myeloproliferative/dysplastic states
traits of pseudo-Pelger Huet cells
- mostly monolobed
- often hypogranular
- <50% are hyposegmented
- immature myeloids present too
inherited lysosomal storage disorder
incompletely degraded mucopolysaccharides in lysosomes
Alder-Reilly anomaly
large purple granules present in all WBCs
Alder-Reilly anomaly
Alder Reilly granules stain with ———, but toxic gran will not
toluidine blue
Alder-Reilly cells often found only in…
BM
Gasser’s cells
- clusters of purple granules surrounded by clear zone
- in lymphs
- Alder-Reilly
large, grayish-blue granules
result from fusion of primary & secondary granules
Chediak-Higashi syndrome
granules are prevented from getting into lysosomes
Chediak-Higashi syndrome
Chediak-Higashi cells are often ——– and ———-; less often they are ———–
grans and monos
lymphs
defective chemotaxis, phagocytosis
↓ WBC and plt
Chediak-Higashi syndrome
often fatal in childhood due to recurrent bacterial infections
Chediak-Higashi syndrome
platelets lack large granules, function abnormally
Chediak-Higashi syndrome
physical signs of Chediak Higashi syndrome
- skin hypopigmentation
- silvery hair
- photophobia
- lymphadenopathy
grans contain inclusions that resemble Dohle bodies
made of RNA from the RER
May-Hegglin anomaly
giant platelets
mild thrombocytopenia
May-Hegglin anomaly
only symptom May-Hegglin patients may have
bleeding tendency
in lymphs, usually one big granule
Chediak-Higashi syndrome
defect of mechanism to catabolize membrane lipids
seondary histiocytosis
examples of hereditary lack of lysosomal enzyme needed for hydrolysis of one of the glycosidic bonds
Secondary histiocytosis
- Gaucher disease
- Neiman-Pick
- Misc lysosomal storage diseases
Neutrophils & macros lack microbicial activity due to defect in respiratory burt oxidase system, and cannot generate H2O2
chronic granulomatous disease (CGD)
neutrophils can engulf bacteria and appear normal, but cat+ organisms can’t be killed
CGD
recurrent infections with opportunistic pathogens, often life-threatening
CGD
granulomas in the BM
CGD
dx of CGD
- nitroblue tetrazolium test (NBT)
- flow cytometry (neutrophil oxidative burst assay)
- cytogenetics
explain nitroblue tetrazolium test
- neutros mixed with NBT & microbes
- normal neutros will phagocytize and generate O2 metabolites, turning NBT blue
- if there is no resp burst, no color change
product of CGD flow cytometry neutrophil oxidative burst assay
fluorescent rhodamine
——– NBT = ———- for CGD
positive
negative
2 forms of leukocyte adhesion deficiency
LAD I
LAD II
↓ or absent cell surface adhesion proteins
LAD I
VECs lack ligand for L-selectin, so neutrophil cannot attach to endothelium and enter tissue
LAD II
dx for LAD I and II
flow
Gaucher sx
- pathological fracture; collapsed vertebrae; bone pain and crises; E-flask deformity; osteonecrosis; BM infiltration; osteopenia
- hepatomegaly; splenomegaly
- thrombocytopenia
- anemia
deficiency of glucocerebrosidase
Gaucher
in Gaucher, the lipid ———- accumulates in the macrophages
glucocerebroside
large macrophages
small eccentric nuclei
wrinkled or striated cytoplasm
Gaucher disease
similar cells to Gaucher seen in…
rapid gran turnover (CML)
often fatal by 3 years
Neimann-Pick
2 types of Neimann-Pick
Type A & B
deficiency of sphingomyelinase
Neimann-Pick
in Neimann-Pick, the lipid ———– accumulates in the macrophages
sphingomyelin
large macrophages
eccentric nuclei
globular cytoplasmic inclusions
“Foam cells”
Neimann-Pick
Foam cells
Neimann-Pick
2 types of mucopolysaccharidosis
Hunter’s
Hurler’s
blue staining macrophages in BM, liver, spleen
sea-blue histiocytosis syndrome
large macrophages
dense eccentric nucleus
blue or blue-green granules
sea-blue histiocytosis syndrome
sea-blue histiocytosis is mostly…
benign
